Study On The Correlation Between Mitochondrial ND4,ND5 Gene Mutation And Temporal Lobe Epilepsy

Objective:Through the comparison of the difference of ND4, ND5 gene variation between patients with temporal lobe epilepsy and normal control group, to explore the correlation between temporal lobe epilepsy and ND4, ND5 gene variation and to investigate the temporal lobe epilepsy formation mechanism and to seek new antiepileptic treatment molecular target point.Methods:(1) experimental groups: 51 patients with temporal lobe epilepsy in the experimental group, 16 healthy adults as the control group.(2) Collecting medical history and related information of the experimental group of patients with temporal lobe epilepsy and control group members, and collect peripheral blood samples, placed in the refrigerator-80.(3) target gene mutation detection: Analying the mutation sites of mitochondrial ND4, ND5 gene and the number of it with MUTATION Surveyor DNA Analysis Software.Results:(1)There was no significant difference in age and sex between the epilepsy group and healthy control group. Patients with temporal lobe epilepsy tend tohave a long history of disease, poor drug control, high recurrence rate and low education level.(2)In the experimental group of 51 patients with temporal lobe epilepsy, 119 single nucleotide base changes were found in the mitochondrial ND4 gene,including 13 Heterogeneous mutations and 103 Homogeneous mutations.A total of 124 single nucleotide changes in the mitochondrial ND5 gene were found,including 9 Heterogeneous mutations and 115 Homogeneous mutations.(3)24 temporal lobe epilepsy patients have the single nucleotide changes of ND4 gene,causing the presence of amino acid changes, 2 control group members have this kind of mutations, using square test, P = 0.013, there is statistical significance. 27 temporal lobe epilepsy patients have the single nucleotide changes of ND5 gene,causing the presence of amino acid changes, 9control group members have this kind of mutations, using square test, P = 0.817,there is no statistical significance.(4)Comparing all the mutations of ND4 gene that cau singamino acid change between the experimental group and the control group, P values were greater than0.05, there is no statistical significance.(5)In 20 the mutant sites of ND4 gene, that can cuse amino acid changes,three mutation sites was reported in related diseases research, the remaining 17 are the newly discovered mutations.In 24 the mutant sites of ND4 gene,6mutation sites were reported in related diseases research, the remaining 18 are the newly discovered mutations.Conclusion:(1)Mitochondrial ND4 gene variants are associated with susceptibility to TLE.But the specific mutation site is not clear.(2)No association was found between the ND5 gene and the susceptibility to temporal lobe epilepsy.(3)In this experiment, we found 25 cases of mitochondrial DNA has not been reported in related diseases mutations,which will further illustrates the mitochondrial DNA high mutation rate.It can also provide the potential sites for further exploration of the correlation bettween mitochondrial ND4, ND5 gene and temporal lobe epilepsy.